#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PROKR2	128674	broad.mit.edu	37	20	5283032	5283032	+	Missense_Mutation	SNP	C	C	T	rs146544539	byFrequency	TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr20:5283032C>T	ENST00000217270.3	-	2	808	c.809G>A	c.(808-810)cGc>cAc	p.R270H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R270H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	270					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGTCTTCCTGCGGCAGCGCAG	0.597										HNSCC(71;0.22)			C|||	2	0.000399361	0.0	0.0	5008	,	,		21104	0.0		0.001	False		,,,				2504	0.001					ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(808-810)cGc>cAc		prokineticin receptor 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	52.0	55.0		809	5.1	1.0	20	dbSNP_134	55	0,8600		0,0,4300	no	missense	PROKR2	NM_144773.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	270/385	5283032	1,13005	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283032C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.809G>A	20.37:g.5283032C>T	ENSP00000217270:p.Arg270His	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.R270H	p.R270H			Q8NFJ6	PKR2_HUMAN			3	1055	-			270					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.809G>A	CCDS13089.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	27.8	4.867771	0.91587	2.27E-4	0.0	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.72725	-0.68;-0.68	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.048745	0.85682	D	0.000000	D	0.84579	0.5503	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86918	0.2065	10	0.87932	D	0	.	15.9064	0.79433	0.0:1.0:0.0:0.0	.	270	Q8NFJ6	PKR2_HUMAN	H	270	ENSP00000440790:R270H;ENSP00000217270:R270H	ENSP00000217270:R270H	R	-	2	0	PROKR2	5231032	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.346000	0.79347	2.370000	0.80446	0.655000	0.94253	CGC		0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		9	57	0	0	0	0.006214	0	9	57				
EVPL	2125	broad.mit.edu	37	17	74015142	74015142	+	Splice_Site	SNP	C	C	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:74015142C>G	ENST00000301607.3	-	11	1391		c.e11-1		EVPL_ENST00000586740.1_Splice_Site	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin						epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTTCCTCTGCCTGCCGGGGGC	0.657																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.e11-1		envoplakin							10.0	13.0	12.0					17																	74015142		2182	4261	6443	SO:0001630	splice_region_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74015142C>G	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1138-1G>C	17.37:g.74015142C>G						EVPL_ENST00000586740.1_Splice_Site		NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			11	1391	-								A0AUV5	Splice_Site	SNP	ENST00000301607.3	37		CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415025	0.42817	.	.	ENSG00000167880	ENST00000301607	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7365	0.85448	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EVPL	71526737	1.000000	0.71417	0.998000	0.56505	0.216000	0.24613	3.653000	0.54446	2.375000	0.81037	0.491000	0.48974	.		0.657	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	Intron	12	23	0	0	0	0.001855	0	12	23				
HDAC8	55869	broad.mit.edu	37	X	71681859	71681859	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chrX:71681859G>A	ENST00000373573.3	-	9	1341	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	HDAC8_ENST00000373589.4_Missense_Mutation_p.H243Y|HDAC8_ENST00000429103.2_Missense_Mutation_p.H139Y|HDAC8_ENST00000373583.1_Intron	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	334			H -> R (in CDLS5). {ECO:0000269|PubMed:22885700}.		chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CTTACCTCATGATCTGGGATC	0.483																																						ENST00000373573.3																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(1000-1002)Cat>Tat		histone deacetylase 8	Vorinostat(DB02546)						119.0	94.0	102.0					X																	71681859		2203	4300	6503	SO:0001583	missense	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71681859G>A	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.1000C>T	X.37:g.71681859G>A	ENSP00000362674:p.His334Tyr					HDAC8_ENST00000429103.2_Missense_Mutation_p.H139Y|HDAC8_ENST00000373589.4_Missense_Mutation_p.H243Y|HDAC8_ENST00000373583.1_Intron	p.H334Y	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN			9	1341	-	Renal(35;0.156)		334					A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	c.1000C>T	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139049	0.77775	.	.	ENSG00000147099	ENST00000373573;ENST00000373589;ENST00000429103;ENST00000373568	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.62	5.62	0.85841	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.997;0.996;0.999	P;P;P	0.60415	0.703;0.792;0.874	D	0.91271	0.5044	10	0.56958	D	0.05	-14.4908	15.8943	0.79323	0.0:0.0:1.0:0.0	.	243;243;334	B4DKN0;A6NGJ7;Q9BY41	.;.;HDAC8_HUMAN	Y	334;243;139;243	ENSP00000362674:H334Y;ENSP00000362691:H243Y;ENSP00000388459:H139Y;ENSP00000362669:H243Y	ENSP00000362669:H243Y	H	-	1	0	HDAC8	71598584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.352000	0.79861	0.594000	0.82650	CAT		0.483	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		28	62	0	0	0	0.005443	0	28	62				
APOBR	55911	broad.mit.edu	37	16	28507219	28507219	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:28507219C>T	ENST00000431282.1	+	2	867	c.857C>T	c.(856-858)aCc>aTc	p.T286I	APOBR_ENST00000564831.1_Missense_Mutation_p.T286I|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.T286I|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	286	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCAGGACAACCCCAGGTAGG	0.632																																						ENST00000564831.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(856-858)aCc>aTc		apolipoprotein B receptor							26.0	29.0	28.0					16																	28507219		1994	4148	6142	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507219C>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.857C>T	16.37:g.28507219C>T	ENSP00000416094:p.Thr286Ile					APOBR_ENST00000328423.5_Missense_Mutation_p.T286I|APOBR_ENST00000431282.1_Missense_Mutation_p.T286I	p.T286I	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN			2	890	+			286			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.857C>T		.	.	.	.	.	.	.	.	.	.	C	8.836	0.941155	0.18281	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.58652	0.32;0.32	3.62	-0.854	0.10705	.	.	.	.	.	T	0.30479	0.0766	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.17319	-1.0373	7	0.31617	T	0.26	.	4.0835	0.09937	0.0:0.3338:0.3386:0.3277	.	.	.	.	I	286	ENSP00000327669:T286I;ENSP00000416094:T286I	ENSP00000327669:T286I	T	+	2	0	APOBR	28414720	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.301000	0.02749	-0.220000	0.09988	-0.364000	0.07487	ACC		0.632	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		11	16	0	0	0	0.008291	0	11	16				
LOC283683	283683	broad.mit.edu	37	15	23108883	23108883	+	RNA	SNP	T	T	C	rs3178813		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr15:23108883T>C	ENST00000557922.1	-	0	246					NR_040057.1																						TTCGACACTATCATCTGCAGA	0.378																																						ENST00000557922.1																			0																																																			0							g.chr15:23108883T>C																													15.37:g.23108883T>C								NR_040057.1						0	246	-									RNA	SNP	ENST00000557922.1	37																																																																																						0.378	RP11-566K19.6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415896.1			3	55	0	0	0	0.004672	0	3	55				
KRTAP1-3	81850	broad.mit.edu	37	17	39190779	39190779	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:39190779T>C	ENST00000344363.5	-	1	328	c.295A>G	c.(295-297)Agt>Ggt	p.S99G		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	109						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.S99G(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCTCCACTGCTGCCCTCC	0.652																																						ENST00000344363.5																			2	Substitution - Missense(2)	p.S99G(2)	lung(1)|kidney(1)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12						c.(295-297)Agt>Ggt		keratin associated protein 1-3							17.0	22.0	21.0					17																	39190779		2007	4147	6154	SO:0001583	missense	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190779T>C	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.295A>G	17.37:g.39190779T>C	ENSP00000344420:p.Ser99Gly						p.S99G	NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	328	-		Breast(137;0.000496)	109					Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	c.295A>G	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997470	0.35226	.	.	ENSG00000221880	ENST00000344363	T	0.38077	1.16	4.93	-9.87	0.00470	.	.	.	.	.	T	0.25754	0.0627	.	.	.	0.09310	N	0.999999	B	0.29253	0.239	B	0.34038	0.174	T	0.43956	-0.9359	8	0.59425	D	0.04	.	10.9204	0.47161	0.1862:0.0:0.0722:0.7416	.	109	Q8IUG1	KRA13_HUMAN	G	99	ENSP00000344420:S99G	ENSP00000344420:S99G	S	-	1	0	KRTAP1-3	36444305	0.028000	0.19301	0.006000	0.13384	0.225000	0.24961	0.193000	0.17116	-1.956000	0.01022	-0.302000	0.09304	AGT		0.652	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			3	47	0	0	0	0.009096	0	3	47				
FAM86HP	729375	broad.mit.edu	37	3	129821650	129821650	+	RNA	SNP	G	G	A	rs56088005	byFrequency	TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr3:129821650G>A	ENST00000500074.2	-	0	495									family with sequence similarity 86, member H, pseudogene																		GGTTGCGGACGGTAAAGGCCA	0.667													g|||	1508	0.301118	0.1861	0.3775	5008	,	,		15451	0.249		0.4344	False		,,,				2504	0.319					ENST00000500074.2																			0																																																			0							g.chr3:129821650G>A			3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129821650G>A														0	495	-									RNA	SNP	ENST00000500074.2	37																																																																																						0.667	FAM86HP-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000358348.1			5	151	0	0	0	0.000602	0	5	151				
OR13F1	138805	broad.mit.edu	37	9	107267381	107267381	+	Missense_Mutation	SNP	G	G	A	rs142994537		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:107267381G>A	ENST00000334726.2	+	1	927	c.838G>A	c.(838-840)Gga>Aga	p.G280R		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGTATGCCGGACAAACCCC	0.428																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(838-840)Gga>Aga		olfactory receptor, family 13, subfamily F, member 1		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	72.0	71.0	71.0		838	4.3	0.2	9	dbSNP_134	71	0,8600		0,0,4300	yes	missense	OR13F1	NM_001004485.1	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	280/320	107267381	1,13005	2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267381G>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.838G>A	9.37:g.107267381G>A	ENSP00000334452:p.Gly280Arg						p.G280R	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	927	+			280					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.838G>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966815	0.34659	2.27E-4	0.0	ENSG00000186881	ENST00000334726	T	0.36878	1.23	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.449691	0.18713	N	0.133238	T	0.43389	0.1245	L	0.29908	0.895	0.09310	N	1	D	0.62365	0.991	P	0.57960	0.83	T	0.29488	-1.0010	10	0.87932	D	0	.	15.0807	0.72113	0.0:0.0:1.0:0.0	.	280	Q8NGS4	O13F1_HUMAN	R	280	ENSP00000334452:G280R	ENSP00000334452:G280R	G	+	1	0	OR13F1	106307202	0.001000	0.12720	0.208000	0.23602	0.152000	0.21847	0.996000	0.29719	2.681000	0.91329	0.655000	0.94253	GGA		0.428	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			10	83	0	0	0	0.010729	0	10	83				
LONP2	83752	broad.mit.edu	37	16	48311247	48311247	+	Splice_Site	SNP	A	A	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:48311247A>T	ENST00000285737.4	+	8	1334		c.e8-1		LONP2_ENST00000535754.1_Splice_Site	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGCTTTCTCTAGGCGCACCTA	0.463																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e8-1		lon peptidase 2, peroxisomal							104.0	96.0	99.0					16																	48311247		2200	4300	6500	SO:0001630	splice_region_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48311247A>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1242-1A>T	16.37:g.48311247A>T						LONP2_ENST00000535754.1_Splice_Site		NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			8	1334	+									Splice_Site	SNP	ENST00000285737.4	37		CCDS10734.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062798	0.76187	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.162	0.81727	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LONP2	46868748	1.000000	0.71417	0.930000	0.37139	0.645000	0.38454	9.287000	0.95975	2.224000	0.72417	0.533000	0.62120	.		0.463	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	Intron	4	85	0	0	0	0.009096	0	4	85				
NCBP1	4686	broad.mit.edu	37	9	100409798	100409798	+	Silent	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:100409798C>T	ENST00000375147.3	+	7	892	c.636C>T	c.(634-636)ccC>ccT	p.P212P		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	212	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CTCATGTACCCATGTTACAGG	0.368																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(634-636)ccC>ccT		nuclear cap binding protein subunit 1, 80kDa							127.0	115.0	119.0					9																	100409798		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100409798C>T	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.636C>T	9.37:g.100409798C>T							p.P212P	NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN			7	892	+		Acute lymphoblastic leukemia(62;0.158)	212			MIF4G.		B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.636C>T	CCDS6728.1																																																																																				0.368	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		3	77	0	0	0	0.000602	0	3	77				
TSPAN32	10077	broad.mit.edu	37	11	2334910	2334910	+	Silent	SNP	C	C	T	rs147630481		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr11:2334910C>T	ENST00000182290.4	+	5	518	c.381C>T	c.(379-381)taC>taT	p.Y127Y	TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Silent_p.Y127Y|TSPAN32_ENST00000451520.2_Silent_p.Y116Y	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	127					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TGGACACCTACGACCTGGTAT	0.672																																						ENST00000182290.4																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(379-381)taC>taT		tetraspanin 32							82.0	51.0	62.0					11																	2334910		2201	4299	6500	SO:0001819	synonymous_variant	10077				cell-cell signaling	integral to membrane		g.chr11:2334910C>T	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.381C>T	11.37:g.2334910C>T						TSPAN32_ENST00000381121.3_Silent_p.Y127Y|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Silent_p.Y116Y	p.Y127Y	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	5	518	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	127					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Silent	SNP	ENST00000182290.4	37	c.381C>T	CCDS7733.1																																																																																				0.672	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		8	14	0	0	0	0.010729	0	8	14				
IARS	3376	broad.mit.edu	37	9	95027811	95027811	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:95027811C>T	ENST00000375643.3	-	15	1722	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.E376K|IARS_ENST00000443024.2_Missense_Mutation_p.E486K	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	486					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TCTTCAAGTTCCGCCACTGAC	0.413																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1456-1458)Gaa>Aaa		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						149.0	142.0	144.0					9																	95027811		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95027811C>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1456G>A	9.37:g.95027811C>T	ENSP00000364794:p.Glu486Lys					IARS_ENST00000447699.2_Missense_Mutation_p.E376K|IARS_ENST00000443024.2_Missense_Mutation_p.E486K|IARS_ENST00000375629.3_5'UTR	p.E486K	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			15	1722	-			486					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.1456G>A	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380695	0.95945	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.38401	1.14;1.14;1.14	5.23	5.23	0.72850	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.048735	0.85682	D	0.000000	T	0.62183	0.2407	M	0.85099	2.735	0.80722	D	1	D;P	0.55385	0.971;0.859	P;P	0.59357	0.856;0.681	T	0.66705	-0.5856	10	0.49607	T	0.09	-21.4256	18.4017	0.90519	0.0:1.0:0.0:0.0	.	486;331	P41252;Q6P0M4	SYIC_HUMAN;.	K	486;486;376;486	ENSP00000364794:E486K;ENSP00000406448:E486K;ENSP00000415020:E376K	ENSP00000364794:E486K	E	-	1	0	IARS	94067632	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.444000	0.80532	2.461000	0.83175	0.591000	0.81541	GAA		0.413	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		7	213	0	0	0	0.004482	0	7	213				
COL4A1	1282	broad.mit.edu	37	13	110844602	110844602	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr13:110844602C>A	ENST00000375820.4	-	24	1616	c.1495G>T	c.(1495-1497)Gac>Tac	p.D499Y	COL4A1_ENST00000543140.1_Missense_Mutation_p.D499Y	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	499	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAACCTCTGTCGCCCTTGGCC	0.498																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1495-1497)Gac>Tac		collagen, type IV, alpha 1							94.0	83.0	87.0					13																	110844602		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110844602C>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1495G>T	13.37:g.110844602C>A	ENSP00000364979:p.Asp499Tyr					COL4A1_ENST00000543140.1_Missense_Mutation_p.D499Y	p.D499Y	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		24	1616	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	499			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.1495G>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500954	0.64298	.	.	ENSG00000187498	ENST00000375820;ENST00000543140	D;D	0.93763	-3.23;-3.28	5.18	5.18	0.71444	.	0.245077	0.40469	N	0.001086	D	0.96393	0.8823	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96626	0.9463	10	0.62326	D	0.03	.	18.7268	0.91717	0.0:1.0:0.0:0.0	.	499	P02462	CO4A1_HUMAN	Y	499	ENSP00000364979:D499Y;ENSP00000443348:D499Y	ENSP00000364979:D499Y	D	-	1	0	COL4A1	109642603	0.969000	0.33509	0.984000	0.44739	0.993000	0.82548	3.931000	0.56529	2.409000	0.81822	0.655000	0.94253	GAC		0.498	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			9	74	1	0	0.000274275	0.004482	0.00053549	9	74				
GLRX3	10539	broad.mit.edu	37	10	131943568	131943568	+	Silent	SNP	A	A	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr10:131943568A>G	ENST00000368644.1	+	2	208	c.186A>G	c.(184-186)caA>caG	p.Q62Q	GLRX3_ENST00000331244.5_Silent_p.Q62Q	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	62	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AACTCCCTCAAGTTTCATTTG	0.428																																						ENST00000368644.1																			0				endometrium(1)|large_intestine(5)|lung(7)	13						c.(184-186)caA>caG		glutaredoxin 3							94.0	94.0	94.0					10																	131943568		2203	4300	6503	SO:0001819	synonymous_variant	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131943568A>G	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.186A>G	10.37:g.131943568A>G						GLRX3_ENST00000331244.5_Silent_p.Q62Q	p.Q62Q	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	2	208	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	62			Thioredoxin.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Silent	SNP	ENST00000368644.1	37	c.186A>G	CCDS7661.1																																																																																				0.428	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		3	57	0	0	0	0.004672	0	3	57				
SPATA8	145946	broad.mit.edu	37	15	97328316	97328316	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr15:97328316G>A	ENST00000328504.3	+	3	554	c.287G>A	c.(286-288)aGt>aAt	p.S96N	SPATA8_ENST00000558553.1_Silent_p.K55K|SPATA8-AS1_ENST00000558722.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	96										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			AACAGGAGAAGTGTCCTGTTT	0.473																																						ENST00000328504.3																			0				large_intestine(4)|lung(8)|ovary(1)|skin(3)	16						c.(286-288)aGt>aAt		spermatogenesis associated 8							168.0	155.0	159.0					15																	97328316		2197	4298	6495	SO:0001583	missense	145946							g.chr15:97328316G>A	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.287G>A	15.37:g.97328316G>A	ENSP00000328149:p.Ser96Asn					SPATA8_ENST00000558553.1_Silent_p.K55K	p.S96N	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		3	554	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		96					Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	c.287G>A	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	G	9.873	1.199472	0.22121	.	.	ENSG00000185594	ENST00000328504	T	0.35048	1.33	3.52	-1.65	0.08291	.	.	.	.	.	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.19844	-1.0293	9	0.87932	D	0	.	4.1291	0.10141	0.3612:0.2037:0.4351:0.0	.	96	Q6RVD6	SPAT8_HUMAN	N	96	ENSP00000328149:S96N	ENSP00000328149:S96N	S	+	2	0	SPATA8	95129320	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.999000	0.03697	-0.319000	0.08652	-0.257000	0.10917	AGT		0.473	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		56	68	0	0	0	0.014410	0	56	68				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			5	88	0	0	0	0.001984	0	5	88				
ZAN	7455	broad.mit.edu	37	7	100352918	100352918	+	RNA	SNP	G	G	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:100352918G>T	ENST00000348028.3	+	0	3359				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCAGGCCTAGCTGTGGGCCC	0.562																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							129.0	135.0	133.0					7																	100352918		1937	4130	6067			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100352918G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100352918G>T						ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3342	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	g	13.67	2.306761	0.40795	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	D;D;D	0.90844	-2.74;-2.74;-2.74	5.13	-5.65	0.02459	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	1.292130	0.05245	N	0.512894	D	0.88377	0.6420	L	0.41824	1.3	0.33574	D	0.599017	P;P	0.51653	0.935;0.947	P;P	0.51582	0.545;0.674	T	0.83267	-0.0045	10	0.66056	D	0.02	.	8.1388	0.31071	0.3742:0.4635:0.1623:0.0	.	1065;1065	F5H0T8;Q9Y493	.;ZAN_HUMAN	I	1065	ENSP00000445943:S1065I;ENSP00000445091:S1065I;ENSP00000444427:S1065I	ENSP00000423579:S1065I	S	+	2	0	ZAN	100190854	0.000000	0.05858	0.023000	0.16930	0.235000	0.25334	-4.515000	0.00222	-1.086000	0.03084	0.651000	0.88453	AGC		0.562	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		73	186	1	0	1.38806e-43	0.014410	2.77612e-43	73	186				
CA13	377677	broad.mit.edu	37	8	86193478	86193478	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr8:86193478T>G	ENST00000321764.3	+	7	991	c.689T>G	c.(688-690)cTc>cGc	p.L230R		NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	230					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	TTTCGCAGTCTCCTGTGCACA	0.458																																						ENST00000321764.3																			0				large_intestine(1)|lung(6)	7						c.(688-690)cTc>cGc		carbonic anhydrase XIII							143.0	169.0	160.0					8																	86193478		2203	4300	6503	SO:0001583	missense	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86193478T>G	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.689T>G	8.37:g.86193478T>G	ENSP00000318912:p.Leu230Arg						p.L230R	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN			7	991	+			230						Missense_Mutation	SNP	ENST00000321764.3	37	c.689T>G	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046088	0.55110	.	.	ENSG00000185015	ENST00000321764	T	0.68181	-0.31	5.32	5.32	0.75619	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.056894	0.64402	D	0.000001	D	0.86364	0.5915	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90154	0.4223	10	0.87932	D	0	-18.0628	14.5548	0.68094	0.0:0.0:0.0:1.0	.	230	Q8N1Q1	CAH13_HUMAN	R	230	ENSP00000318912:L230R	ENSP00000318912:L230R	L	+	2	0	CA13	86380730	1.000000	0.71417	0.690000	0.30148	0.181000	0.23173	6.123000	0.71614	2.139000	0.66308	0.459000	0.35465	CTC		0.458	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		30	244	0	0	0	0.003271	0	30	244				
AHNAK	79026	broad.mit.edu	37	11	62284755	62284755	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr11:62284755T>C	ENST00000378024.4	-	5	17408	c.17134A>G	c.(17134-17136)Atc>Gtc	p.I5712V	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5712					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCATTTTGATCTTGGACTTT	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(17134-17136)Atc>Gtc		AHNAK nucleoprotein							78.0	81.0	80.0					11																	62284755		2201	4299	6500	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62284755T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17134A>G	11.37:g.62284755T>C	ENSP00000367263:p.Ile5712Val					AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.I5712V	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17408	-		Melanoma(852;0.155)	5712					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.17134A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979556	0.34942	.	.	ENSG00000124942	ENST00000378024	T	0.01059	5.39	4.77	3.62	0.41486	.	.	.	.	.	T	0.03390	0.0098	L	0.46741	1.465	0.34604	D	0.716871	P	0.46784	0.884	P	0.62491	0.903	T	0.54180	-0.8332	9	0.28530	T	0.3	.	10.611	0.45421	0.1438:0.0:0.0:0.8562	.	5712	Q09666	AHNK_HUMAN	V	5712	ENSP00000367263:I5712V	ENSP00000367263:I5712V	I	-	1	0	AHNAK	62041331	0.086000	0.21541	0.988000	0.46212	0.876000	0.50452	0.372000	0.20467	0.661000	0.30985	0.448000	0.29417	ATC		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		3	149	0	0	0	0.004672	0	3	149				
NAALADL2	254827	broad.mit.edu	37	3	175455163	175455163	+	Silent	SNP	T	T	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr3:175455163T>C	ENST00000454872.1	+	12	2094	c.1966T>C	c.(1966-1968)Tta>Cta	p.L656L	snoU13_ENST00000606657.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	656						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGATATAGCTTTAGAAGTTCA	0.313																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(1966-1968)Tta>Cta		N-acetylated alpha-linked acidic dipeptidase-like 2							104.0	97.0	99.0					3																	175455163		1819	4074	5893	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175455163T>C		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1966T>C	3.37:g.175455163T>C							p.L656L	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	12	2094	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	656					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.1966T>C	CCDS46960.1																																																																																				0.313	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		3	64	0	0	0	0.009096	0	3	64				
BAI3	577	broad.mit.edu	37	6	69758224	69758224	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr6:69758224A>T	ENST00000370598.1	+	14	3076	c.2255A>T	c.(2254-2256)aAa>aTa	p.K752I		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	752					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGTCATCAAAAGGTAAATAT	0.328																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2254-2256)aAa>aTa		brain-specific angiogenesis inhibitor 3							56.0	59.0	58.0					6																	69758224		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69758224A>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2255A>T	6.37:g.69758224A>T	ENSP00000359630:p.Lys752Ile						p.K752I	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			14	3076	+		all_lung(197;0.212)	752					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2255A>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.221520	0.39300	.	.	ENSG00000135298	ENST00000370598	T	0.22134	1.97	5.08	3.75	0.43078	Domain of unknown function DUF3497 (1);	0.307454	0.27482	N	0.019179	T	0.07052	0.0179	N	0.14661	0.345	0.80722	D	1	B	0.30104	0.268	B	0.38378	0.272	T	0.08932	-1.0698	10	0.52906	T	0.07	.	7.9378	0.29939	0.8225:0.0:0.1775:0.0	.	752	O60242	BAI3_HUMAN	I	752	ENSP00000359630:K752I	ENSP00000359630:K752I	K	+	2	0	BAI3	69814945	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.376000	0.44292	2.056000	0.61249	0.529000	0.55759	AAA		0.328	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			5	47	0	0	0	0.001168	0	5	47				
SLC4A7	9497	broad.mit.edu	37	3	27444776	27444776	+	Silent	SNP	C	C	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr3:27444776C>G	ENST00000295736.5	-	15	2218	c.2148G>C	c.(2146-2148)gtG>gtC	p.V716V	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Silent_p.V601V|SLC4A7_ENST00000455077.1_Silent_p.V597V|SLC4A7_ENST00000446700.1_Silent_p.V708V|SLC4A7_ENST00000428386.1_Silent_p.V592V|SLC4A7_ENST00000454389.1_Silent_p.V725V|SLC4A7_ENST00000437179.1_Silent_p.V597V|SLC4A7_ENST00000388777.4_Silent_p.V266V|SLC4A7_ENST00000445684.1_Silent_p.V712V|SLC4A7_ENST00000440156.1_Silent_p.V712V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	716					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TAATATAACACACAAGGCTGC	0.378																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2146-2148)gtG>gtC		solute carrier family 4, sodium bicarbonate cotransporter, member 7							105.0	105.0	105.0					3																	27444776		2203	4300	6503	SO:0001819	synonymous_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27444776C>G	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2148G>C	3.37:g.27444776C>G						SLC4A7_ENST00000446700.1_Silent_p.V708V|SLC4A7_ENST00000440156.1_Silent_p.V712V|SLC4A7_ENST00000437179.1_Silent_p.V597V|SLC4A7_ENST00000445684.1_Silent_p.V712V|SLC4A7_ENST00000388777.4_Silent_p.V266V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Silent_p.V592V|SLC4A7_ENST00000454389.1_Silent_p.V725V|SLC4A7_ENST00000455077.1_Silent_p.V597V|SLC4A7_ENST00000435667.2_Silent_p.V601V	p.V716V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			15	2218	-			716					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	c.2148G>C	CCDS33721.1																																																																																				0.378	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		6	145	0	0	0	0.001168	0	6	145				
SLC8A3	6547	broad.mit.edu	37	14	70522512	70522512	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:70522512C>T	ENST00000381269.2	-	4	2660		c.e4+1		SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000534137.1_Splice_Site|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000528359.1_Splice_Site|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000357887.3_Splice_Site	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3						blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACACCTCTTACCTGGAGATAA	0.403																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.e4+1		solute carrier family 8 (sodium/calcium exchanger), member 3							75.0	74.0	74.0					14																	70522512		2203	4300	6503	SO:0001630	splice_region_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70522512C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1906+1G>A	14.37:g.70522512C>T						SLC8A3_ENST00000357887.3_Splice_Site|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000534137.1_Splice_Site|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000528359.1_Splice_Site|SLC8A3_ENST00000216568.7_Intron		NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	4	2660	-								Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Splice_Site	SNP	ENST00000381269.2	37		CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607082	0.66558	.	.	ENSG00000100678	ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3	0.87180	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC8A3	69592265	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	3.505000	0.53356	2.941000	0.99782	0.655000	0.94253	.		0.403	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		Intron	15	16	0	0	0	0.004990	0	15	16				
SVEP1	79987	broad.mit.edu	37	9	113208159	113208159	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:113208159T>C	ENST00000401783.2	-	26	4757	c.4421A>G	c.(4420-4422)gAt>gGt	p.D1474G	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1451G|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1474G|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1474	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTGCCGTTATCAACTGCATA	0.453																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(4420-4422)gAt>gGt		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							173.0	166.0	169.0					9																	113208159		1963	4161	6124	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113208159T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4421A>G	9.37:g.113208159T>C	ENSP00000384917:p.Asp1474Gly					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1474G|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1451G	p.D1474G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			26	4757	-			1474			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4421A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.789199	0.49997	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.72394	0.16;0.16;-0.65	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.190460	0.56097	D	0.000038	T	0.60353	0.2262	N	0.17278	0.47	0.42889	D	0.994191	P;B	0.40578	0.722;0.324	B;B	0.42163	0.378;0.305	T	0.64508	-0.6391	10	0.44086	T	0.13	.	15.8924	0.79309	0.0:0.0:0.0:1.0	.	1474;1474	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	G	1474;1451;1474	ENSP00000384917:D1474G;ENSP00000363593:D1451G;ENSP00000304118:D1474G	ENSP00000304118:D1474G	D	-	2	0	SVEP1	112247980	1.000000	0.71417	0.806000	0.32338	0.059000	0.15707	7.591000	0.82666	2.219000	0.72066	0.533000	0.62120	GAT		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	141	0	0	0	0.001168	0	6	141				
FAM110B	90362	broad.mit.edu	37	8	59058923	59058923	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr8:59058923C>T	ENST00000361488.3	+	5	1014	c.134C>T	c.(133-135)cCc>cTc	p.P45L	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	45						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GAGCCCAACCCCAAGAGGCTC	0.667																																						ENST00000361488.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(133-135)cCc>cTc		family with sequence similarity 110, member B							34.0	37.0	36.0					8																	59058923		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59058923C>T	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.134C>T	8.37:g.59058923C>T	ENSP00000355204:p.Pro45Leu					FAM110B_ENST00000520369.1_Intron	p.P45L	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN			5	1014	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	45					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.134C>T	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750181	0.69533	.	.	ENSG00000169122	ENST00000361488	T	0.47869	0.83	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.61703	1.905	0.80722	D	1	P	0.50066	0.931	P	0.57204	0.815	T	0.61598	-0.7030	9	.	.	.	-19.1696	18.2903	0.90127	0.0:1.0:0.0:0.0	.	45	Q8TC76	F110B_HUMAN	L	45	ENSP00000355204:P45L	.	P	+	2	0	FAM110B	59221477	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.659000	0.61504	2.312000	0.78011	0.313000	0.20887	CCC		0.667	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		9	42	0	0	0	0.010729	0	9	42				
STK31	56164	broad.mit.edu	37	7	23871854	23871854	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:23871854G>C	ENST00000355870.3	+	24	3048	c.2929G>C	c.(2929-2931)Gag>Cag	p.E977Q	STK31_ENST00000428484.1_Missense_Mutation_p.E954Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.E954Q|STK31_ENST00000433467.2_Missense_Mutation_p.E954Q	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	977	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GATGCCAAAGGAGCAATCAGT	0.358																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2860-2862)Gag>Cag		serine/threonine kinase 31							106.0	106.0	106.0					7																	23871854		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23871854G>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2929G>C	7.37:g.23871854G>C	ENSP00000348132:p.Glu977Gln					STK31_ENST00000428484.1_Missense_Mutation_p.E954Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E977Q|STK31_ENST00000433467.2_Missense_Mutation_p.E954Q	p.E954Q	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			24	3324	+			977			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.2860G>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906587	0.33628	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.70399	-0.48;1.32;-0.47;-0.47	4.98	4.08	0.47627	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.821157	0.10896	N	0.622179	T	0.44117	0.1278	N	0.08118	0	0.09310	N	0.999992	P;P;P	0.39157	0.662;0.608;0.476	B;B;B	0.32677	0.15;0.063;0.063	T	0.13045	-1.0524	10	0.15066	T	0.55	9.0E-4	8.3385	0.32230	0.1686:0.0:0.8314:0.0	.	954;977;977	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	Q	977;954;954;954	ENSP00000348132:E977Q;ENSP00000411852:E954Q;ENSP00000346660:E954Q;ENSP00000406146:E954Q	ENSP00000346660:E954Q	E	+	1	0	STK31	23838379	0.980000	0.34600	0.833000	0.33012	0.796000	0.44982	2.229000	0.42990	2.454000	0.82982	0.491000	0.48974	GAG		0.358	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		3	95	0	0	0	0.009096	0	3	95				
SERPINA1	5265	broad.mit.edu	37	14	94847272	94847272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:94847272G>A	ENST00000448921.1	-	5	1425	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000393088.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000404814.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000402629.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000440909.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000355814.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000437397.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000449399.3_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000393087.4_Nonsense_Mutation_p.Q285*	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	285					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCCAGGTGCTGTAGTTTCCCC	0.507																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(853-855)Cag>Tag		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						156.0	149.0	152.0					14																	94847272		2203	4300	6503	SO:0001587	stop_gained	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94847272G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.853C>T	14.37:g.94847272G>A	ENSP00000416066:p.Gln285*					SERPINA1_ENST00000437397.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000402629.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000393087.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000355814.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000440909.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000404814.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000393088.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000449399.3_Nonsense_Mutation_p.Q285*	p.Q285*	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	5	1425	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	285					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Nonsense_Mutation	SNP	ENST00000448921.1	37	c.853C>T	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	38	6.878248	0.97904	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	.	.	.	5.18	-3.82	0.04281	.	0.726457	0.12374	N	0.474528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	4.1041	0.10028	0.0751:0.292:0.1666:0.4663	.	.	.	.	X	285	.	ENSP00000348068:Q285X	Q	-	1	0	SERPINA1	93917025	0.545000	0.26449	0.000000	0.03702	0.008000	0.06430	0.722000	0.25925	-0.264000	0.09365	0.555000	0.69702	CAG		0.507	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		12	135	0	0	0	0.001855	0	12	135				
GABRA6	2559	broad.mit.edu	37	5	161128522	161128522	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr5:161128522C>T	ENST00000274545.5	+	9	1538	c.1105C>T	c.(1105-1107)Cat>Tat	p.H369Y	GABRA6_ENST00000523217.1_Missense_Mutation_p.H359Y			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	369					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.H369Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCCAAATATCATCTGAAGAA	0.378										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			1	Substitution - Missense(1)	p.H369Y(1)	skin(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1075-1077)Cat>Tat		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						104.0	109.0	107.0					5																	161128522		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128522C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1105C>T	5.37:g.161128522C>T	ENSP00000274545:p.His369Tyr	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.H369Y	p.H359Y	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1317	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	369					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1075C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	5.469	0.271617	0.10349	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83914	-1.78;-1.78	5.16	-0.862	0.10673	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.571169	0.17860	N	0.159575	T	0.59128	0.2171	N	0.04959	-0.14	0.24253	N	0.99532	B	0.02656	0.0	B	0.12837	0.008	T	0.46938	-0.9155	10	0.30854	T	0.27	.	4.9722	0.14121	0.4759:0.2697:0.0:0.2544	.	369	Q16445	GBRA6_HUMAN	Y	369;359	ENSP00000274545:H369Y;ENSP00000430527:H359Y	ENSP00000274545:H369Y	H	+	1	0	GABRA6	161061100	0.710000	0.27896	0.635000	0.29338	0.943000	0.58893	1.108000	0.31123	0.013000	0.14918	0.655000	0.94253	CAT		0.378	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			8	155	0	0	0	0.004482	0	8	155				
TP53	7157	broad.mit.edu	37	17	7572986	7572986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:7572986G>A	ENST00000269305.4	-	11	1312	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q375*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	375	Basic (repression of DNA-binding).|Interaction with CARM1.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(1)|p.Q375*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGGTAGACTGACCCTTTTTG	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		10	Whole gene deletion(8)|Substitution - Nonsense(1)|Unknown(1)	p.0?(8)|p.?(1)|p.Q375*(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|urinary_tract(1)|stomach(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(1123-1125)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							193.0	173.0	180.0					17																	7572986		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7572986G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1123C>T	17.37:g.7572986G>A	ENSP00000269305:p.Gln375*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.Q375*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron	p.Q375*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	11	1312	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	375			Basic (repression of DNA-binding).|Interaction with CARM1.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1123C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079412	0.76528	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	5.31	3.18	0.36537	.	0.952987	0.08806	N	0.891079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-7.9939	7.7108	0.28677	0.0:0.1941:0.6294:0.1765	.	.	.	.	X	375;375;364;26	.	ENSP00000269305:Q375X	Q	-	1	0	TP53	7513711	0.963000	0.33076	0.841000	0.33234	0.615000	0.37417	1.786000	0.38694	1.427000	0.47276	0.561000	0.74099	CAG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	142	0	0	0	0.001984	0	6	142				
CTAGE5	4253	broad.mit.edu	37	14	39777757	39777757	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:39777757G>A	ENST00000280083.3	+	13	1473	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	CTAGE5_ENST00000553352.1_Missense_Mutation_p.E358K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E387K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E312K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E387K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E392K|CTAGE5_ENST00000557038.1_Missense_Mutation_p.E307K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E375K|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E922K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E358K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E358K			O15320	CTGE5_HUMAN	CTAGE family, member 5	387					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AGTAATGACTGAATTATATCA	0.284																																						ENST00000553728.1																			0											c.(2764-2766)Gaa>Aaa									40.0	45.0	44.0					14																	39777757		2183	4244	6427	SO:0001583	missense	0							g.chr14:39777757G>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1159G>A	14.37:g.39777757G>A	ENSP00000280083:p.Glu387Lys					CTAGE5_ENST00000557038.1_Missense_Mutation_p.E307K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E358K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E387K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E375K|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E358K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E312K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E392K|CTAGE5_ENST00000280083.3_Missense_Mutation_p.E387K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E387K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E358K	p.E922K							17	2977	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.2764G>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185574	0.94885	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.79352	2.32;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.62	5.62	0.85841	.	.	.	.	.	D	0.89887	0.6845	M	0.89904	3.07	0.50313	D	0.999868	P;P;P;P;D;P	0.63880	0.92;0.92;0.776;0.92;0.993;0.92	P;P;P;P;D;P	0.68039	0.73;0.73;0.469;0.73;0.955;0.73	D	0.91121	0.4930	8	.	.	.	.	17.4578	0.87612	0.0:0.0:1.0:0.0	.	349;392;387;387;358;375	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	K	922;375;307;349;358;387;392;387;312;387;358	ENSP00000452252:E922K;ENSP00000343897:E375K;ENSP00000450869:E307K;ENSP00000379468:E358K;ENSP00000339286:E387K;ENSP00000379462:E392K;ENSP00000280083:E387K;ENSP00000452562:E312K;ENSP00000343912:E387K;ENSP00000450449:E358K	.	E	+	1	0	CTAGE5;RP11-407N17.3	38847508	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	6.773000	0.75006	2.665000	0.90641	0.585000	0.79938	GAA		0.284	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		5	100	0	0	0	0.001168	0	5	100				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	87	0	0	0	0.004289	0	32	87				
LONP2	83752	broad.mit.edu	37	16	48381506	48381506	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:48381506G>A	ENST00000285737.4	+	13	2120	c.2027G>A	c.(2026-2028)cGa>cAa	p.R676Q	LONP2_ENST00000535754.1_Missense_Mutation_p.R632Q	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGGCGAGTCGAATGGATGGC	0.557																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2026-2028)cGa>cAa		lon peptidase 2, peroxisomal							129.0	128.0	128.0					16																	48381506		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48381506G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2027G>A	16.37:g.48381506G>A	ENSP00000285737:p.Arg676Gln					LONP2_ENST00000535754.1_Missense_Mutation_p.R632Q	p.R676Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			13	2120	+			676						Missense_Mutation	SNP	ENST00000285737.4	37	c.2027G>A	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453446	0.96223	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.29655	1.56;1.56	6.06	6.06	0.98353	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65323	0.934;0.934	T	0.07578	-1.0765	10	0.12766	T	0.61	-11.7093	20.6208	0.99490	0.0:0.0:1.0:0.0	.	632;676	B7ZKL7;Q86WA8	.;LONP2_HUMAN	Q	676;405;632	ENSP00000285737:R676Q;ENSP00000445426:R632Q	ENSP00000285737:R676Q	R	+	2	0	LONP2	46939007	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	7.856000	0.86956	2.882000	0.98803	0.655000	0.94253	CGA		0.557	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		4	100	0	0	0	0.000602	0	4	100				
JMJD1C	221037	broad.mit.edu	37	10	64973913	64973913	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr10:64973913T>A	ENST00000399262.2	-	8	2232	c.2014A>T	c.(2014-2016)Aga>Tga	p.R672*	JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.R453*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.R490*|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.R453*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	672					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTGCCAATCTTCTTTCACCA	0.388																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2014-2016)Aga>Tga		jumonji domain containing 1C							145.0	134.0	137.0					10																	64973913		1882	4117	5999	SO:0001587	stop_gained	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64973913T>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2014A>T	10.37:g.64973913T>A	ENSP00000382204:p.Arg672*					JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.R490*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.R453*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.R453*	p.R672*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			8	2232	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		672					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.2014A>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	45	11.916321	0.99617	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	6.11	2.15	0.27550	.	0.161513	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.5233	13.5488	0.61719	0.0:0.0:0.3527:0.6473	.	.	.	.	X	672;453;453;490	.	ENSP00000382195:R453X	R	-	1	2	JMJD1C	64643919	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.908000	0.48750	1.095000	0.41419	0.533000	0.62120	AGA		0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		21	95	0	0	0	0.002780	0	21	95				
C19orf57	79173	broad.mit.edu	37	19	14015679	14015679	+	Silent	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr19:14015679G>A	ENST00000586783.1	-	1	26	c.27C>T	c.(25-27)acC>acT	p.T9T	C19orf57_ENST00000454313.1_Silent_p.T9T|C19orf57_ENST00000346736.2_Silent_p.T9T|CC2D1A_ENST00000589606.1_5'Flank|CC2D1A_ENST00000318003.7_5'Flank|C19orf57_ENST00000591586.1_Silent_p.T9T			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	9					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACGTACCTGAGGTCCGCAGCT	0.413																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(25-27)acC>acT		chromosome 19 open reading frame 57							212.0	181.0	192.0					19																	14015679		2203	4300	6503	SO:0001819	synonymous_variant	79173				multicellular organismal development		protein binding	g.chr19:14015679G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.27C>T	19.37:g.14015679G>A						C19orf57_ENST00000346736.2_Silent_p.T9T|C19orf57_ENST00000591586.1_Silent_p.T9T|C19orf57_ENST00000586783.1_Silent_p.T9T	p.T9T			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	85	-			9					Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37	c.27C>T																																																																																					0.413	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		4	129	0	0	0	0.001168	0	4	129				
TMPRSS15	5651	broad.mit.edu	37	21	19770245	19770245	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr21:19770245A>T	ENST00000284885.3	-	3	328	c.295T>A	c.(295-297)Tca>Aca	p.S99T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	99	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGATTGCTTGATAGAAAGATC	0.244																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(295-297)Tca>Aca		transmembrane protease, serine 15							15.0	16.0	16.0					21																	19770245		2135	4213	6348	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19770245A>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.295T>A	21.37:g.19770245A>T	ENSP00000284885:p.Ser99Thr						p.S99T	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			3	328	-			99			SEA.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.295T>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	7.800	0.713433	0.15306	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.34275	1.37;1.37	4.68	3.44	0.39384	SEA (3);	0.371268	0.26048	N	0.026655	T	0.22704	0.0548	L	0.31294	0.92	0.27805	N	0.942355	B	0.18741	0.03	B	0.19946	0.027	T	0.07635	-1.0762	9	.	.	.	.	7.1124	0.25399	0.7999:0.0:0.0:0.2001	.	99	P98073	ENTK_HUMAN	T	99;54	ENSP00000284885:S99T;ENSP00000398253:S54T	.	S	-	1	0	TMPRSS15	18692116	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.745000	0.38278	2.076000	0.62316	0.523000	0.50628	TCA		0.244	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		3	9	0	0	0	0.004672	0	3	9				
CDH26	60437	broad.mit.edu	37	20	58558037	58558037	+	Silent	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr20:58558037C>T	ENST00000244047.5	+	5	764	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CDH26_ENST00000348616.4_Silent_p.F151F			Q8IXH8	CAD26_HUMAN	cadherin 26	151	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCTTGATTTTCAACATTAGGA	0.413																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(451-453)ttC>ttT		cadherin 26							166.0	166.0	166.0					20																	58558037		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58558037C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.453C>T	20.37:g.58558037C>T						CDH26_ENST00000244047.5_Silent_p.F151F	p.F151F	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		5	753	+	all_lung(29;0.00963)		151			Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.453C>T																																																																																					0.413	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		9	199	0	0	0	0.006214	0	9	199				
SIKE1	80143	broad.mit.edu	37	1	115321810	115321811	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr1:115321810_115321811insT	ENST00000060969.5	-	3	429_430	c.360_361insA	c.(358-363)aaagcgfs	p.A121fs	SIKE1_ENST00000369528.5_Frame_Shift_Ins_p.A125fs|SIKE1_ENST00000506320.1_5'UTR			Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	121					innate immune response (GO:0045087)	cytosol (GO:0005829)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						GCATCCACCGCTTTTTTAGCAA	0.396																																						ENST00000369528.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(370-375)aacggtfs		suppressor of IKBKE 1																																				SO:0001589	frameshift_variant	80143					cytosol	protein binding	g.chr1:115321810_115321811insT	AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723			26119	protein-coding gene	gene with protein product	"""suppressor of IKK epsilon"""	611656				16281057	Standard	NM_025073		Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000060969.5:c.361dupA	1.37:g.115321816_115321816dupT	ENSP00000060969:p.Ala121fs					SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000060969.5_Frame_Shift_Ins_p.NG120fs	p.NG124fs	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN			3	449_450	-			120					Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	Frame_Shift_Ins	INS	ENST00000060969.5	37	c.372_373insA	CCDS878.1																																																																																				0.396	SIKE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033401.1	NM_025073		30	139						30	139	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202603435	202603435	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr2:202603435delA	ENST00000264276.6	-	12	2747	c.2375delT	c.(2374-2376)ttcfs	p.F792fs	ALS2_ENST00000457679.2_Frame_Shift_Del_p.F104fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	792	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATAACCAGGAAATTTGTAAT	0.383																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(2374-2376)tcfs		amyotrophic lateral sclerosis 2 (juvenile)							90.0	88.0	88.0					2																	202603435		1864	4105	5969	SO:0001589	frameshift_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202603435delA	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2375delT	2.37:g.202603435delA	ENSP00000264276:p.Phe792fs					ALS2_ENST00000457679.2_Frame_Shift_Del_p.F104fs	p.F792fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			12	2747	-			792			DH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Frame_Shift_Del	DEL	ENST00000264276.6	37	c.2375delT	CCDS42800.1																																																																																				0.383	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		9	53						9	53	---	---	---	---
MRPL38	64978	broad.mit.edu	37	17	73895623	73895623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:73895623delG	ENST00000309352.3	-	7	1380	c.843delC	c.(841-843)ttcfs	p.F281fs	MRPL38_ENST00000585475.1_5'Flank|RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Frame_Shift_Del_p.F97fs|TRIM65_ENST00000269383.3_5'Flank	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	281						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGTCCTCAGAGAAGTCAATCG	0.617																																						ENST00000309352.3																			0				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(841-843)ttfs		mitochondrial ribosomal protein L38							73.0	59.0	64.0					17																	73895623		2203	4298	6501	SO:0001589	frameshift_variant	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73895623delG	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.843delC	17.37:g.73895623delG	ENSP00000308275:p.Phe281fs					RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Frame_Shift_Del_p.F97fs	p.F281fs	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	1380	-			281					B3KN96|Q96Q66|Q9P0B9	Frame_Shift_Del	DEL	ENST00000309352.3	37	c.843delC	CCDS11733.2																																																																																				0.617	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		10	35						10	35	---	---	---	---
